Results 81 to 90 of about 244,526 (128)

Single-Cell Landscape of the Cochlea Revealed Cell-Type-Specific Diversification in <i>Hipposideros armiger</i> Based on PacBio Long-Read Sequencing. [PDF]

Biomolecules
Bao M, Wang X, Li X, Sun R, Wang Z, Jiang T, Wang H, Feng J.   +7 more
europepmc   +1 more source

A Novel <i>LMX1A</i> Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7. [PDF]

Hum Mutat
Xu C, Nie Z, Wang S, Zhu Y, Liu X, Guo Y.   +5 more
europepmc   +1 more source

A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family. [PDF]

J Audiol Otol
Swetha J, Sakthignanavel A, Manoharan A, Rangarajalu J, Arunagiri P, Govindasamy C, Ravikumar S.   +6 more
europepmc   +1 more source

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38. [PDF]

Genes (Basel), 2023
Velde HM, Huizenga XJJ, Yntema HG, Haer-Wigman L, Beynon AJ, Oostrik J, Pegge SAH, Kremer H, Lanting CP, Pennings RJE.   +9 more
europepmc   +1 more source

Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions. [PDF]

Front Neurol, 2022
Maudoux A, Vitry S, El-Amraoui A.
europepmc   +1 more source

Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment. [PDF]

Intractable Rare Dis Res, 2021
Hegde S, Hegde R, Kulkarni SS, Das KK, Gai PB, Bulgouda R.   +5 more
europepmc   +1 more source

Advancing precision ear medicine: leveraging animal models for disease insights and therapeutic innovations. [PDF]

Mamm Genome
Vitry S, Mendia C, Maudoux A, El-Amraoui A.   +3 more
europepmc   +1 more source

Novel <i>OTOG</i> Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort. [PDF]

Genes (Basel)
Arai Y, Nishio SY, Goto S, Kobayashi Y, Honkura Y, Ganaha A, Ishikawa K, Oka SI, Futagawa H, Okami M, Takada F, Nagai K, Esaki T, Okano T, Ohta Y, Masuda S, Egusa K, Teraoka M, Sugahara K, Usami SI.   +19 more
europepmc   +1 more source

De novo variants are a common cause of genetic hearing loss. [PDF]

Genet Med, 2022
Klimara MJ, Nishimura C, Wang D, Kolbe DL, Schaefer AM, Walls WD, Frees KL, Smith RJH, Azaiez H.   +8 more
europepmc   +1 more source

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges. [PDF]

J Clin Med, 2020
Delmaghani S, El-Amraoui A.
europepmc   +1 more source